Cystinosis Newsletter - Cystinosis Research Network

Page 24 The Cystinosis Research Network Fall/Winter 2006
What the Cystinosis Research Network Means to Me
CRN has given me HOPE. It has helped me provide
accurate information, given me access to
medical personnel who have treated this disease
for years, given me a way to act – by volunteering,
and connected me to a whole family that lives
this life of cystinosis.
In November, 1996, at a routine 9 month check up
for my son Garrett, the Physicians Assistant who
was conducting the exam noted that he had
stopped growing. We had already discussed the
fact that he had no interest in baby food and only
wanted to drink water and formula. Since this
was my first child, I didn’t know that the amounts
he was drinking were significant.
When she left the room to get his shots, she said;
“He is probably just on the cusp of a growth spurt,
you’ll see. But if he hasn’t grown but the next appointment,
we’ll have to do a failure to thrive work
up.”
My exhaustion from sitting up in a recliner nights with what other people were labeling my “fussy
baby,” alternating between a water bottle and a formula bottle, turned to panic. When she returned
to the room she had changed her mind, and decided to do the work-up right then. The PA knew me
well enough to know I would worry for those three months now that those words were out in the
open. The urine that she took that day did have blood, sugar and protein in it, and so we were sent
off to the nearby hospital for some preliminary blood tests. When the Pediatrician called back, she
said we would need to see a Pediatric Nephrologist (one of many new words Garrett’s father, Larry,
and I would learn). Usually there was a two or three month lag before getting an appointment to see
them. Based on the urine and blood results, they were going to see Garrett the next Wednesday, the
day before Thanksgiving. Well, this made me worry even more.
At our first appointment at Children’s hospital in Buffalo NY, the Nephrologist told us that Garrett had
Fanconi Syndrome, but that was secondary to the real problem. We needed to find out what was
causing it. There were a couple of things it could be, one of which was cystinosis. Garrett got
started on the supplements at that point in time. I started researching this cystinosis, and what I read
was scary. Remember this was 10 years ago. Most of the information I read was outdated – and
infants didn’t have the benefit of Cystagon.
At that point, our string of good luck ran out. A Czech medical fellow at the Kidney Center took over
and getting the cystine test kit didn’t happen until after the New Year. The fellow spoke very broken
English, and when he gave us the diagnosis over the phone (YES), we were told Garrett would die
within a year. Of course, this corresponded with much of the research I had done.
Well, as Garrett likes to say – he has proven them wrong. He is 10, about to turn 11 in February. He
has had a plethora of problems over the years but is active in inter-mural sports, water skis, rides his
bike, and does many things I never anticipated those 10 years ago. The medical fellow moved on,
and our medical team has been tremendous since then.